CDKN2A Gene Melanoma and neural system tumor syndrome, familial NGS Genetic Test
Short Name: CDKN2A NGS Genetic Test
Also known as: Familial Melanoma NGS Panel, CDKN2A Mutation Analysis, Melanoma Genetic Risk Test
CDKN2A Gene Melanoma and neural system tumor syndrome, familial NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the CDKN2A gene that predispose individuals to melanoma and neural system tumors. It is indicated for individuals with a personal or family history of these cancers, especially when multiple family members are affected or when early-onset melanoma (
- Test Code
- 6004
- CPT Code
- 81479
- ICD Code
- Z15.09
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, it is recommended to bring any relevant medical records and family history information. A genetic counseling session will be arranged prior to sample collection to discuss the test implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a fingerstick blood spot will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be transported to the laboratory for analysis. Results will be available in 3-4 weeks and will be communicated via your preferred method.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the CDKN2A gene that predispose individuals to melanoma and neural system tumors. It is indicated for individuals with a personal or family history of these cancers, especially when multiple family members are affected or when early-onset melanoma (<40 years) is present. The test aids in confirming a clinical diagnosis, assessing cancer risk, guiding surveillance protocols, and enabling cascade testing of at-risk relatives.
How to Prepare
- No fasting required
- Inform the lab if you have had a blood transfusion in the past 2 weeks
- Ensure the FTA card is properly dried and stored in the provided envelope
- For blood sample, use EDTA tube and mix gently to prevent clotting
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for CDKN2A mutations is crucial for early detection and management of familial melanoma and neural system tumors. This NGS-based test provides comprehensive analysis to guide personalized surveillance and preventive strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample received in improper container
- Sample label mismatch
- Sample exposed to extreme temperatures
Understanding Your Results
Positive (Pathogenic variant detected)
The individual has a pathogenic mutation in CDKN2A, confirming a high risk for melanoma and neural system tumors. Enhanced surveillance and preventive measures are recommended.
Action: Consult with a genetic counselor and oncologist to develop a personalized screening plan. Offer cascade testing to at-risk family members.
Negative (No pathogenic variant detected)
No disease-causing mutation was found in the CDKN2A gene. However, this does not exclude hereditary cancer risk from other genes.
Action: Consider testing for other melanoma susceptibility genes if family history is strong. Continue regular skin examinations and follow general cancer screening guidelines.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is currently unknown.
Action: Further family studies and functional analyses may be needed to clarify the variant's role. Genetic counseling is recommended.
If you have a family history of melanoma or neural system tumors, or if you have been diagnosed with multiple melanomas at a young age, it is advisable to consult a genetic counselor or oncologist to discuss the appropriateness of this test.
Limitations
- ⚠This test does not detect all possible genetic causes of melanoma; other genes (e.g., CDK4, MITF) are not analyzed
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed
- ⚠The test does not assess somatic mutations in tumor tissue
- ⚠Regulatory regions and deep intronic variants may not be covered
- ⚠Negative result does not rule out hereditary cancer risk due to other genes
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of learning genetic risk
- ●Potential for incidental findings (unrelated genetic variants)
- ●Insurance or employment discrimination concerns (though protected by law in many regions)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematologic malignancies causing clonal hematopoiesis
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Bone marrow transplantation can affect results
Compare With Similar Tests
| Test | CDKN2A Gene Melanoma and neural system tumor syndrome, familial NGS Genetic Test | CDK4 Gene Mutation Analysis | Melanoma Multi-Gene Panel | BRCA1/BRCA2 Gene Test |
|---|---|---|---|---|
| Comparison | CDKN2A Gene Melanoma and neural system tumor syndrome, familial NGS Genetic Test |
Frequently Asked Questions
What is the CDKN2A gene and why is it important?
Who should consider this CDKN2A genetic test?
What is the cost of the CDKN2A NGS genetic test in India?
What sample is required for the test?
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How long does it take to get the results?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Is home sample collection available?
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